Abstract: INFO17-FR
Clinical Trials and Genetic Testing for Autosomal Dominant Tubulointerstitial Kidney Disease (ADKTD)
Session Information
- Informational Posters - II
November 08, 2019 | Location: Exhibit Hall, Walter E. Washington Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Genetic Diseases of the Kidneys
- No subcategory defined
Authors
- Bleyer, Anthony J., Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States
- Kmoch, Stanislav, Institute of Inherited Metabolic Disorders, Prague, Czechia
- Greka, Anna, Harvard Medical School, Boston, Massachusetts, United States
Description
Background: Autosomal dominant tubulo-interstitial kidney disease (ADKTD) is characterized by: autosomal dominant inheritance (at least a parent and child affected), bland urinary sediment with minimal blood and protein in the urine, CKD progression to ESRD at ages ranging from 25 to 70 years, and kidney ultrasound showing normal or small kidneys with occasional cysts. The most common causes are mutations in the UMOD, MUC1, and REN gene. Researchers at the Wake Forest School of Medicine, Broad Institute of Harvard Medical School and MIT, and Charles University Medical School of Prague, Czech Republic have studied these conditions for the last decade. Many patients are undiagnosed and know little about these conditions, and there are no treatments.
CURRENT STUDIES: (1) Genetics evaluation: We can provide free genetic testing for individuals who meet criteria for ADTKD and are undiagnosed. (2) Prospective Trial of Natural HIstory and Biomarker Development in ADTKD: To develop biomarkers of disease and study progression in all three major types of ADTKD. (2) Trial of Ergocalciferol in ADTKD due to MUC1 Mutations: To determine if ergocalciferol lowers MUC1 and mutant MUC1 production.
Patient support and advocacy: We also provide information about these conditions to individuals who already have a diagnosis.
If you are interested in our studies or meeting with our team at the meeting, please contact us at ableyer@wakehealth.edu
Most common forms of ADTKD
| Gene | Disease | Characteristics | Diagnosis |
| UMOD | Uromodulin Kidney Disease | Gout prior to kidney failure. ESRD in 30s to 70s | Mutational analysis of UMOD |
| REN | Renin Associated Kidney Disease | Anemia in childhood, Gout, mild hypotension, mild hyperkalemia | Mutational analysis of REN |
| MUC1 | Mucin-1 Kidney Disease | Chronic kidney disease. ESRD in 30s to 70 | Mutational analysis of MUC1 |
Funding
- NIH/NIDDK R21-DK106584-01 Private Foundation Support